Khanna Rahul, Surendranath Anudeep, Singhal Saurabh
Neurology, Neurology and Sleep Clinic, West Burlington, USA.
Neurology, CHI St. Vincent - Hot Springs, Hot Springs, USA.
Cureus. 2025 May 11;17(5):e83923. doi: 10.7759/cureus.83923. eCollection 2025 May.
Turnpenny-Fry syndrome (TPFS) is caused by a heterozygous mutation in the gene on chromosome 17q12. A total of 15 cases have been reported to date. Of these, only two cases of TPFS have included a confirmed history of seizures. We report a new case of TPFS with epilepsy, which suggests that further studies of this rare disease are needed to fully understand the extent of developmental abnormalities associated with such genetic syndromes. This paper summarizes the clinical features to be aware of and the diagnostic genetic testing that can lead to the appropriate diagnosis, thereby contributing to the existing literature on this rare condition.
Turnpenny-Fry综合征（TPFS）由17号染色体q12区域基因的杂合突变引起。迄今为止共报告了15例病例。其中，仅有2例TPFS病例有确诊的癫痫发作史。我们报告了1例伴有癫痫的TPFS新病例，这表明需要对这种罕见疾病进行进一步研究，以全面了解与此类基因综合征相关的发育异常程度。本文总结了需要注意的临床特征以及有助于做出正确诊断的诊断性基因检测，从而为关于这种罕见病症的现有文献做出贡献。
